ClinVar Miner

List of variants in gene ACVRL1 reported as uncertain significance by Invitae

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Total variants: 48
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HGVS dbSNP
NM_000020.2(ACVRL1):c.1004A>T (p.Asn335Ile) rs1060503247
NM_000020.2(ACVRL1):c.1007T>A (p.Val336Glu) rs1565594467
NM_000020.2(ACVRL1):c.1025T>C (p.Leu342Pro)
NM_000020.2(ACVRL1):c.1027_1047del (p.Gln343_Leu349del)
NM_000020.2(ACVRL1):c.1028A>C (p.Gln343Pro)
NM_000020.2(ACVRL1):c.1033T>C (p.Cys345Arg) rs1060503239
NM_000020.2(ACVRL1):c.1034G>A (p.Cys345Tyr)
NM_000020.2(ACVRL1):c.1046T>C (p.Leu349Pro)
NM_000020.2(ACVRL1):c.1093G>A (p.Gly365Ser)
NM_000020.2(ACVRL1):c.1121G>C (p.Arg374Pro) rs1060503248
NM_000020.2(ACVRL1):c.1188_1189delinsAA (p.Asp397Asn)
NM_000020.2(ACVRL1):c.1190A>T (p.Asp397Val)
NM_000020.2(ACVRL1):c.1228C>T (p.Arg410Cys) rs781770577
NM_000020.2(ACVRL1):c.1310A>G (p.Asp437Gly) rs1060503238
NM_000020.2(ACVRL1):c.1313T>C (p.Met438Thr) rs1555153828
NM_000020.2(ACVRL1):c.1324G>A (p.Val442Met) rs1085307421
NM_000020.2(ACVRL1):c.137G>C (p.Cys46Ser) rs1555152454
NM_000020.2(ACVRL1):c.1412G>A (p.Cys471Tyr) rs1555154137
NM_000020.2(ACVRL1):c.1416G>C (p.Trp472Cys) rs1060503243
NM_000020.2(ACVRL1):c.1416G>T (p.Trp472Cys)
NM_000020.2(ACVRL1):c.1448T>G (p.Leu483Arg) rs1565597471
NM_000020.2(ACVRL1):c.148T>C (p.Trp50Arg) rs1555152468
NM_000020.2(ACVRL1):c.208G>A (p.Gly70Arg) rs1439294840
NM_000020.2(ACVRL1):c.236G>A (p.Gly79Glu) rs1283365095
NM_000020.2(ACVRL1):c.265T>G (p.Cys89Gly) rs1555152520
NM_000020.2(ACVRL1):c.266G>T (p.Cys89Phe) rs1060503234
NM_000020.2(ACVRL1):c.269G>T (p.Cys90Phe)
NM_000020.2(ACVRL1):c.293A>G (p.Asn98Ser) rs1085307406
NM_000020.2(ACVRL1):c.368T>C (p.Leu123Pro) rs762756031
NM_000020.2(ACVRL1):c.470T>C (p.Leu157Pro) rs1371249289
NM_000020.2(ACVRL1):c.518T>C (p.Met173Thr) rs754813319
NM_000020.2(ACVRL1):c.526-7C>A rs772776468
NM_000020.2(ACVRL1):c.557G>T (p.Ser186Ile) rs1288729113
NM_000020.2(ACVRL1):c.593T>C (p.Val198Ala) rs886043123
NM_000020.2(ACVRL1):c.653G>C (p.Arg218Pro) rs779287554
NM_000020.2(ACVRL1):c.655G>C (p.Gly219Arg)
NM_000020.2(ACVRL1):c.685A>G (p.Lys229Glu)
NM_000020.2(ACVRL1):c.706G>A (p.Glu236Lys)
NM_000020.2(ACVRL1):c.772G>A (p.Gly258Ser) rs1555152966
NM_000020.2(ACVRL1):c.773-7_773-6delinsTC rs1555153071
NM_000020.2(ACVRL1):c.851C>T (p.Ser284Phe) rs768643771
NM_000020.2(ACVRL1):c.916_917delinsAA (p.Ala306Lys) rs1060503244
NM_000020.2(ACVRL1):c.925G>C (p.Gly309Arg)
NM_000020.2(ACVRL1):c.969A>C (p.Lys323Asn) rs771877309
NM_000020.2(ACVRL1):c.984C>A (p.His328Gln) rs1565594410
NM_000020.2(ACVRL1):c.992T>C (p.Phe331Ser) rs1166311240
NM_001077401.2(ACVRL1):c.1177_1179delinsCAA (p.Tyr393Gln) rs1565595070
NM_001077401.2(ACVRL1):c.611_613TGG[1] (p.Val205del) rs1060503250

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